Cristina Amat Di San Filippo

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric Crombez, Bernd Schwahn et al. · Molecular Genetics and Metabolism · 2006 · 93 citations

Medicine, Maternal Health, Pediatrics +12

Genotype-phenotype correlation in primary carnitine deficiency

Emily Rose, Cristina Amat Di San Filippo, Uzochi Chimdinma Ndukwe Erlingsson et al. · Human Mutation · 2011 · 83 citations

Life Sciences, Genetics, Molecular Genetics +15

Cardiomyopathy and carnitine deficiency

Cristina Amat Di San Filippo, Matthew R.G. Taylor, Luisa Mestroni et al. · Molecular Genetics and Metabolism · 2008 · 71 citations · Full text

Medicine, Biochemistry, Cardiology +9

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 gene

Steven F. Dobrowolski, Jason T. McKinney, Cristina Amat Di San Filippo et al. · Human Mutation · 2005 · 61 citations

Life Sciences, Genetics, Molecular Genetics +17

Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of <i>HTRA1</i> in human retinal pigment epithelium

Brandi L. Williams, Nathan A. Seager, Jamie Gardiner et al. · Proceedings of the National Academy of Sciences · 2021 · 61 citations · Full text

Medicine, Genetics, Molecular Genetics +14